Intellectual Disability
Product NameApplicationRegion
ME028-PWS/AS Prader-Willi syndrome (PWS); Angelman syndrome (AS) PWS/AS region (15q11-13), MKRN3, MAGEL2, NDN, SNRPN, UBE3A, ATP10A, GABRB3, OCA2
ME029-FMR1/AFF2 Fragile X FMR1, AFF2
ME032-UPD7-UPD14 Uniparental disomy 7 (UPD7); Russel-Silver syndrome (RSS); Uniparental disomy 14 (UPD14); Temple syndrome (TS); Kagami-Ogata syndrome (KOS) 6q24; 7p12; 7q32; 14q32
P013-ATRX Alpha-thalassemia X-linked intellectual disability syndrome (ATRX) ATRX Xq21.1
P015-MECP2CE RETT syndrome, classic; RETT syndrome, atypical; MECP2 duplication syndrome; X-linked intellectual disability syndrome MECP2 Xq28; CDKL5 Xp22.13; ARX Xp21.3; NTNG1 1p13.3
P026-Sotos Sotos syndrome NSD1 5q35; NFIX 19p13
P029-WBS Williams-Beuren syndrome (WBS); 7q11.23 duplication syndrome WBS criticial region 7q11.23
P036-Subtelomeres Mix 1CEMAIL Subtelomeric testing All subtelomeres
P046-TSC2 Tuberous sclerosis complex (TSC) TSC2 16p13.3
P049-SLC6A8 - ABCD1 X-linked creatine deficiency syndrome; X-linked adrenoleukodystrophy (X-ALD); X-linked hydrocephalus Xq28 region; SLC6A8 Xq28; ABCD1 Xq28
P061-Lissencephaly Lissencephaly LIS1, DCX, POMT1, POMGnT1, FLNA
P064-Microdeletion Syndromes1BCEMA Microdeletion syndromes; Microduplication syndromes Various
P070-Subtelomeres Mix 2BCEMAIL Subtelomeric testing All subtelomeres
P075-TCF4-FOXG1 Pitt-Hopkins syndrome (PTHS); RETT syndrome, congenital variant TCF4 18q21.2; FOXG1 14q12
P095-AneuploidyCECOMAIL Down syndrome; Edwards syndrome; Patau syndrome; Turner syndrome; Triple X syndrome; Klinefelter syndrome; XYY syndrome Chr. 13, 18, 21, X, Y
P096-MR-2 To be retired – Mental retardation, Wolf-Hirschhorn, Cri du Chat, Langer-Giedon, WAGR, Rubinstein-Taybi, Down, Kabuki Various
P103-DPYD Dihydropyrimidine dehydrogenase (DPYD) deficiency DPYD 1p22
P106-MRX Mental retardation, x-linked (XLMR) Chromosome X
P122-NF1-area Neurofibromatosis NF1 17q11.2
P124-TSC1CE Tuberous sclerosis complex (TSC) TSC1 9q34.13
P141-NIPBL-1 Cornelia de Lange syndrome (CdLS) NIPBL 5p13.2
P142-NIPBL-2 Cornelia de Lange syndrome (CdLS) NIPBL 5p13.2
P147-1p36 1p36 deletion syndrome 1p36
P187-HPE Holoprosencephaly (HPE) PTCH, SHH, ZIC2, SIX3, TGIF TMEM1, FBXW11
P188-22q13 Phelan-Mcdermid syndrome, Telomeric monosomy 22q13.3 22q13.3, SHANK3, ACR, RABL2B
P189-CDKL5/ARX/FOXG1CE RETT syndrome, atypical; X-linked infantile spasm syndrome; FOXG1 syndrome CDKL5 Xp22.13; NTNG1 1p13.3; ARX Xp21.3; FOXG1 14q12
P208-Human Telomere-6 Subtelomeric testing 2p, 3p, 6p, 8p
P230-Human Telomere-7 Subtelomeric testing 9p, 10p, 11p, 12p
P233-MID1 OPITZ syndrome MID1 Xp22
P245-Microdeletion Syndromes1ACEMAIL Microdeletion syndromes; Microduplication syndromes Various
P249-Human Telomere-8 Subtelomeric testing 17p, 18p, 19p, 20p
P250-DiGeorgeCECOIL DiGeorge syndrome; 22q11.2 deletion syndrome; 22q11.2 duplication syndrome; DGS type II; Disorders with phenotypic features of DGS; Cat eye syndrome (CES); Velocardiofacial syndrome (VCFS) 22q11.2; 22q13; 17p; 10p; 9q; 8p; 4q
P259-RPS6KA3 Coffin-Lowry Syndrome (CLS) RPS6KA3, PQBP1.
P264-Human Telomere-9 Subtelomeric testing 1q, 2q, 3q, 4q
P267-Dandy-Walker Dandy-Walker malformation (DWM) ZIC1 3q24; ZIC4 3q24; VLDLR 9p24.2; FOXC1 6p25.3
P275-MAPT-GRN Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration, progressive supranuclear palsy MAPT 17q21
P277-Human Telomere-10 Subtelomeric testing 5q, 6q, 7q, 8q
P286-Human Telomere-11 Subtelomeric testing 9q, 10q, 11q, 12q
P291-Human Telomere-12 Subtelomeric testing 13q, 14q, 15q, 16q
P297-Microdeletion-2 Microdeletion syndromes Various
P313-CREBBP Rubinstein–Taybi syndrome (RSTS) CREBBP 16p13.3
P320-Human Telomere-13 Subtelomeric testing 17q, 18q, 19q, 20q.
P321-VPS13B mix 1 Cohen syndrome VPS13B 8q22
P322-VPS13B mix 2 Cohen syndrome VPS13B 8q22
P325-OCA2 oculocutaneous albinism OCA2 15q12; TYR 11q14.3
P326-LARGE1 Walker-Warburg Syndrome LARGE, FKTN, POMT2
P330-PCDH19 Epilepsy (EFMR) PCDH19
P333-EP300 Rubinstein–Taybi syndrome (RSTS) EP300; 22q13.2
P336-UBE3A Angelman UBE3A, MTHFR, GABRB3
P337-TSC2 Tuberous sclerosis TSC2 gene, 16p13.3
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